HMGCL [The Human Chemical-Genetic Interaction Map Project]

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======= HMGCL =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: HMGCL
  * **<color #00a2e8>Official Name</color>**: 3-hydroxy-3-methylglutaryl-CoA lyase
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=3155|3155]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P35914|P35914]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=HMGCL&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20HMGCL|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/613898|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Key enzyme in ketogenesis (ketone body formation). Terminal step in leucine catabolism. Ketone bodies (beta- hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as lipid precursors and as regulators of metabolism. {ECO:0000269|PubMed:22847177, ECO:0000269|PubMed:22865860, ECO:0000269|PubMed:8566388}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|HMGL-like|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|hydroxymethylglutaryl-CoA lyase activity|
|leucine catabolic process|
|carboxylic acid binding|
|leucine metabolic process|
|ketone body biosynthetic process|
|cellular ketone body metabolic process|
|ketone body metabolic process|
|fatty-acyl-CoA binding|
|branched-chain amino acid catabolic process|
|branched-chain amino acid metabolic process|
|peroxisomal matrix|
|manganese ion binding|
|protein targeting to peroxisome|
|protein localization to peroxisome|
|establishment of protein localization to peroxisome|
|peroxisomal transport|
|peroxisome organization|
|response to fatty acid|
|fatty acid derivative biosynthetic process|
|acyl-CoA metabolic process|
|thioester metabolic process|
|alpha-amino acid catabolic process|
|peroxisome|
|liver development|
|cellular amino acid catabolic process|
|hepaticobiliary system development|
|ribonucleoside bisphosphate metabolic process|
|nucleoside bisphosphate metabolic process|
|purine nucleoside bisphosphate metabolic process|
|protein tetramerization|
|fatty acid derivative metabolic process|
|response to starvation|
|alpha-amino acid metabolic process|
|response to nutrient|
|magnesium ion binding|
|coenzyme metabolic process|
|carboxylic acid catabolic process|
|organic acid catabolic process|
|cellular amino acid metabolic process|
|purine ribonucleotide metabolic process|
|ribonucleotide metabolic process|
|purine nucleotide metabolic process|
|ribose phosphate metabolic process|
|response to acid chemical|
|protein targeting|
|sulfur compound metabolic process|
|purine-containing compound metabolic process|
|mitochondrial matrix|
|gland development|
|generation of precursor metabolites and energy|
|establishment of protein localization to organelle|
|small molecule catabolic process|
|cofactor metabolic process|
|mitochondrion organization|
|nucleotide metabolic process|
|nucleoside phosphate metabolic process|
|response to nutrient levels|
|drug metabolic process|
|protein complex oligomerization|
|response to extracellular stimulus|
|nucleobase-containing small molecule metabolic process|
|small molecule biosynthetic process|
|protein localization to organelle|
|cellular amide metabolic process|
|response to lipid|
|protein homodimerization activity|
|organophosphate metabolic process|
|carboxylic acid metabolic process|
|intracellular protein transport|
|oxoacid metabolic process|
|organic acid metabolic process|
|carbohydrate derivative metabolic process|
|organonitrogen compound catabolic process|
|lipid metabolic process|
|mitochondrion|
|protein transport|
|intracellular transport|
|peptide transport|
|response to oxygen-containing compound|
|protein-containing complex assembly|
|amide transport|
|cellular protein localization|
|cellular macromolecule localization|
|establishment of protein localization|
|small molecule metabolic process|
|organic substance catabolic process|
|cellular catabolic process|
|establishment of localization in cell|
|nitrogen compound transport|
|protein-containing complex subunit organization|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp488|Hippuristanol 0.12μM R08 exp488]]|1.79|
|[[:results:exp458|Bisphenol S 100μM R08 exp458]]|1.81|
|[[:results:exp216|Erlotinib 10μM R05 exp216]]|1.9|
|[[:results:exp535|Trimetrexate 0.03μM R08 exp535]]|1.98|
|[[:results:exp489|Hippuristanol 0.12μM R08 exp489 no dilution day6]]|2.08|
|[[:results:exp294|Nutlin-3A 1.6μM R06 exp294]]|2.18|
|[[:results:exp234|Ethanol 0.01 R05 exp234]]|2.21|
|[[:results:exp301|VER-155008 3.9μM R06 exp301]]|2.24|
|[[:results:exp226|Cerivastatin 0.15μM R05 exp226]]|2.46|
|[[:results:exp282|Fluvastatin 2.2μM R06 exp282]]|4.13|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 11335
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.46 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='HMGCL Expression in NALM6 Cells: 3.46'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>